U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Inborn carbohydrate metabolic disorder

MedGen UID:
2825
Concept ID:
C0007001
Disease or Syndrome
Synonyms: Carbohydrate Metabolism, Inborn Error; Carbohydrate Metabolism, Inborn Errors
 
Monarch Initiative: MONDO:0019214
Orphanet: ORPHA79161

Definition

An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. [from MONDO]

Professional guidelines

PubMed

Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
Bayless TM, Christopher NL
Am J Clin Nutr 1969 Feb;22(2):181-90. doi: 10.1093/ajcn/22.2.181. PMID: 4885929

Diagnosis

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083

Therapy

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176213. PMID: 32867370Free PMC Article
Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083
Leturque A, Brot-Laroche E, Le Gall M
Prog Mol Biol Transl Sci 2012;108:113-27. doi: 10.1016/B978-0-12-398397-8.00005-8. PMID: 22656375

Prognosis

Gümüş E, Özen H
World J Gastroenterol 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932. PMID: 37476587Free PMC Article
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Deng D, Xu C, Sun P, Wu J, Yan C, Hu M, Yan N
Nature 2014 Jun 5;510(7503):121-5. Epub 2014 May 18 doi: 10.1038/nature13306. PMID: 24847886

Clinical prediction guides

Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Xia Y, Duan Y, Zheng W, Liang L, Zhang H, Luo X, Gu X, Sun Y, Xiao B, Qiu W
J Clin Lipidol 2022 Jan-Feb;16(1):40-51. Epub 2021 Dec 6 doi: 10.1016/j.jacl.2021.11.015. PMID: 34969652
Goetzman ES, Gong Z, Schiff M, Wang Y, Muzumdar RH
J Inherit Metab Dis 2018 Jan;41(1):5-17. Epub 2017 Sep 26 doi: 10.1007/s10545-017-0091-x. PMID: 28952033Free PMC Article
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
van de Burgt N, van Doesum W, Grevink M, van Niele S, de Koning T, Leibold N, Martinez-Martinez P, van Amelsvoort T, Cath D
Neurosci Biobehav Rev 2023 Jan;144:104970. Epub 2022 Nov 25 doi: 10.1016/j.neubiorev.2022.104970. PMID: 36436739
Morais JBS, Severo JS, de Alencar GRR, de Oliveira ARS, Cruz KJC, Marreiro DDN, Freitas BJESA, de Carvalho CMR, Martins MDCCE, Frota KMG
Nutrition 2017 Jun;38:54-60. Epub 2017 Feb 2 doi: 10.1016/j.nut.2017.01.009. PMID: 28526383
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...